The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Acroosteolysis of distal phalanges (feet) | Very frequent (present in 80%-99% of cases) |
| Alopecia | Very frequent (present in 80%-99% of cases) |
| Aplasia/Hypoplasia of the clavicles | Very frequent (present in 80%-99% of cases) |
| Dermal atrophy | Very frequent (present in 80%-99% of cases) |
| Large fontanelles | Very frequent (present in 80%-99% of cases) |
| Limitation of joint mobility | Very frequent (present in 80%-99% of cases) |
| Osteolytic defects of the distal phalanges of the hand | Very frequent (present in 80%-99% of cases) |
| Progeroid facial appearance | Very frequent (present in 80%-99% of cases) |
| Short distal phalanx of finger | Very frequent (present in 80%-99% of cases) |
| Thin skin | Very frequent (present in 80%-99% of cases) |
| Wormian bones | Very frequent (present in 80%-99% of cases) |
| Abnormality of the eyebrow | Frequent (present in 30%-79% of cases) |
| Hyperlipidemia | Frequent (present in 30%-79% of cases) |
| Insulin resistance | Frequent (present in 30%-79% of cases) |
| Proptosis | Frequent (present in 30%-79% of cases) |
| Abnormality of the dentition | Occasional (present in 5%-29% of cases) |
| Absent eyelashes | Occasional (present in 5%-29% of cases) |
| Arthralgia | Occasional (present in 5%-29% of cases) |
| Breast aplasia | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Flexion |
Occasional (present in 5%-29% of cases) |
| Hearing impairment | Occasional (present in 5%-29% of cases) |
| High palate | Occasional (present in 5%-29% of cases) |
| Hyperpigmentation of the skin | Occasional (present in 5%-29% of cases) |
| Lack of skin elasticity | Occasional (present in 5%-29% of cases) |
| Muscular |
Occasional (present in 5%-29% of cases) |
| - | |
| Bird-like facies | - |
| Calcinosis | - |
| Delayed cranial suture closure | - |
| Dental crowding | - |
| Full cheeks | - |
| Glucose intolerance | - |
| Heterogeneous | - |
| Hyperglycemia | - |
| Hyperinsulinemia | - |
| Hypoplasia of teeth | - |
| Increased adipose |
- |
| Increased facial adipose tissue | - |
| Insulin-resistant |
- |
| Joint stiffness | - |
| Juvenile onset | - |
| Lipodystrophy | - |
| Loss of subcutaneous adipose tissue in limbs | - |
| - | |
| Mottled pigmentation | - |
| Narrow nasal ridge | - |
| Postnatal growth retardation | - |
| Premature loss of teeth | - |
| Progressive clavicular acroosteolysis | - |
| Reduced subcutaneous adipose tissue | - |
| Short clavicles | - |
| Sparse scalp hair | - |
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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Young Investigator Initiative Career Development and Grant Mentoring Program
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The following diseases are related to Mandibuloacral dysplasia with type A lipodystrophy. If you have a question about any of these diseases, you can contact GARD.
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